ArticleMolecular genetics and metabolism
Severe obesity and diabetes insipidus in a patient with PCSK1 deficiency.
Article in Molecular genetics and metabolism. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 76 citations in OpenAlex.
- Pathogenic Deep Intronic PCSK1 Variant Causes Proprotein Convertase 1/3 Deficiency in a Family.Clinical genetics · 2025Article
- Differentiating monogenic and syndromic obesities from polygenic obesity: Assessment, diagnosis, and management.Obesity pillars · 2024Review
- Peak-agnostic high-resolution cis-regulatory circuitry mapping using single cell multiome data.Nucleic acids research · 2024Article
- Exploring the therapeutic potential of precision medicine in rare genetic obesity disorders: a scientific perspective.Frontiers in nutrition · 2024Review
- Rare HeterozygousGenes · 2022Review
- Article
- Modulation of PC1/3 activity by a rare double-site homozygous mutation.Frontiers in pediatrics · 2022Article
- Gene expression atlas of energy balance brain regions.JCI insight · 2021Article
- A case of prohormone convertase deficiency diagnosed with type 2 diabetes.Turkish archives of pediatrics · 2021Article
- Case Report: Complete Maternal Uniparental Isodisomy of Chromosome 5 (iUPD(5)mat) WithFrontiers in genetics · 2021Article
- Long-Term Follow-up of a Case with Proprotein Convertase 1/3 Deficiency: Transient Diabetes Mellitus with Intervening Diabetic Ketoacidosis During Growth Hormone Therapy.Journal of clinical research in pediatric endocrinology · 2017Article
- Functional and clinical relevance of novel and knownMolecular metabolism · 2017Article
- GENETIC AND EPIGENETIC CAUSES OF OBESITY.Adolescent medicine: state of the art reviews · 2017Review
- Glucagon-like peptide 1 in the pathophysiology and pharmacotherapy of clinical obesity.World journal of diabetes · 2016Review
- Endoplasmic reticulum-associated degradation of the mouse PC1/3-N222D hypomorph and human PCSK1 mutations contributes to obesity.International journal of obesity (2005) · 2016Article
- PCSK1 Variants and Human Obesity.Progress in molecular biology and translational science · 2016Review
- Rare Genetic Forms of Obesity: Clinical Approach and Current Treatments in 2016.Obesity facts · 2016Article
- A nonsense loss-of-function mutation in PCSK1 contributes to dominantly inherited human obesity.International journal of obesity (2005) · 2015Article
- Common variants in PCSK1 influence blood pressure and body mass index.Journal of human hypertension · 2015Article
- Review
Corrections and comments
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Authors and funding
9 authors at 4 institutions in 2 countries.
Funding
Abstract
Non-synonymous mutations affecting both alleles of PCSK1 (proprotein convertase 1/3) are associated with obesity and impaired prohormone processing. We report a proband who was compound heterozygous for a maternally inherited frameshift mutation and a paternally inherited 474kb deletion that encompasses PCSK1, representing a novel genetic mechanism underlying this phenotype. Although pro-vasopressin is not a known physiological substrate of PCSK1, the development of central diabetes insipidus in this proband suggests that PCSK1 deficiency can be associated with impaired osmoregulation.
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